A22T (p.Ala22Thr) variant of SPTBN4 (Q9H254)
A22T (p.Ala22Thr) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with hypotonia, neuropathy, and deafness; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs548831212
- ClinGen CA9445234
- ClinVar RCV003138805
- ClinVar RCV005495530
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.0569
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, neuropathy, and deaf)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)